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Items: 1 to 20 of 11958

1.

rs1491514170 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AC>- [Show Flanks]
    Chromosome:
    16:57539169 (GRCh38)
    16:57573081 (GRCh37)
    Canonical SPDI:
    NC_000016.10:57539164:ACACAC:ACAC
    Gene:
    ADGRG5 (Varview)
    Functional Consequence:
    intron_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    ACAC=0./0 (ALFA)
    -=0./0 (GnomAD)
    -=0.000008/2 (TOPMED)
    HGVS:
    2.

    rs1491507852 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      CTCT>-,CT,CTCTCT [Show Flanks]
      Chromosome:
      16:57541779 (GRCh38)
      16:57575691 (GRCh37)
      Canonical SPDI:
      NC_000016.10:57541772:CTCTCTCTCT:CTCTCT,NC_000016.10:57541772:CTCTCTCTCT:CTCTCTCT,NC_000016.10:57541772:CTCTCTCTCT:CTCTCTCTCTCT
      Gene:
      ADGRG5 (Varview)
      Functional Consequence:
      upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      CTCTCTCT=0./0 (ALFA)
      HGVS:
      3.

      rs1491409383 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TA>- [Show Flanks]
        Chromosome:
        16:57533707 (GRCh38)
        16:57567619 (GRCh37)
        Canonical SPDI:
        NC_000016.10:57533705:ATA:A
        Gene:
        CCDC102A (Varview), ADGRG5 (Varview)
        Functional Consequence:
        intron_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0./0 (ALFA)
        HGVS:
        4.

        rs1491401346 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->C [Show Flanks]
          Chromosome:
          16:57539165 (GRCh38)
          16:57573078 (GRCh37)
          Canonical SPDI:
          NC_000016.10:57539165:C:CC
          Gene:
          ADGRG5 (Varview)
          Functional Consequence:
          intron_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          CC=0./0 (ALFA)
          C=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1491318713 has merged into rs58690103 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            TT>-,T,TTT,TTTT,TTTTT,TTTTTT [Show Flanks]
            Chromosome:
            16:57552040 (GRCh38)
            16:57585952 (GRCh37)
            Canonical SPDI:
            NC_000016.10:57552028:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000016.10:57552028:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:57552028:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:57552028:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:57552028:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:57552028:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
            Gene:
            ADGRG5 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            TTTTTTTTTTTT=0./0 (ALFA)
            HGVS:
            6.

            rs1491317398 has merged into rs3030608 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              TTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
              Chromosome:
              16:57543289 (GRCh38)
              16:57577201 (GRCh37)
              Canonical SPDI:
              NC_000016.10:57543278:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000016.10:57543278:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000016.10:57543278:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:57543278:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:57543278:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:57543278:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:57543278:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:57543278:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:57543278:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:57543278:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:57543278:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:57543278:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:57543278:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:57543278:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:57543278:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:57543278:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:57543278:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:57543278:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:57543278:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:57543278:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:57543278:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:57543278:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:57543278:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:57543278:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:57543278:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:57543278:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:57543278:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
              Gene:
              ADGRG5 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              TTTTTTTTTT=0./0 (ALFA)
              -=0.000023/6 (TOPMED)
              HGVS:
              NC_000016.10:g.57543289_57543300del, NC_000016.10:g.57543290_57543300del, NC_000016.10:g.57543291_57543300del, NC_000016.10:g.57543292_57543300del, NC_000016.10:g.57543293_57543300del, NC_000016.10:g.57543294_57543300del, NC_000016.10:g.57543295_57543300del, NC_000016.10:g.57543296_57543300del, NC_000016.10:g.57543297_57543300del, NC_000016.10:g.57543298_57543300del, NC_000016.10:g.57543299_57543300del, NC_000016.10:g.57543300del, NC_000016.10:g.57543300dup, NC_000016.10:g.57543299_57543300dup, NC_000016.10:g.57543298_57543300dup, NC_000016.10:g.57543297_57543300dup, NC_000016.10:g.57543296_57543300dup, NC_000016.10:g.57543295_57543300dup, NC_000016.10:g.57543294_57543300dup, NC_000016.10:g.57543293_57543300dup, NC_000016.10:g.57543292_57543300dup, NC_000016.10:g.57543291_57543300dup, NC_000016.10:g.57543290_57543300dup, NC_000016.10:g.57543289_57543300dup, NC_000016.10:g.57543286_57543300dup, NC_000016.10:g.57543283_57543300dup, NC_000016.10:g.57543300_57543301insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.57577201_57577212del, NC_000016.9:g.57577202_57577212del, NC_000016.9:g.57577203_57577212del, NC_000016.9:g.57577204_57577212del, NC_000016.9:g.57577205_57577212del, NC_000016.9:g.57577206_57577212del, NC_000016.9:g.57577207_57577212del, NC_000016.9:g.57577208_57577212del, NC_000016.9:g.57577209_57577212del, NC_000016.9:g.57577210_57577212del, NC_000016.9:g.57577211_57577212del, NC_000016.9:g.57577212del, NC_000016.9:g.57577212dup, NC_000016.9:g.57577211_57577212dup, NC_000016.9:g.57577210_57577212dup, NC_000016.9:g.57577209_57577212dup, NC_000016.9:g.57577208_57577212dup, NC_000016.9:g.57577207_57577212dup, NC_000016.9:g.57577206_57577212dup, NC_000016.9:g.57577205_57577212dup, NC_000016.9:g.57577204_57577212dup, NC_000016.9:g.57577203_57577212dup, NC_000016.9:g.57577202_57577212dup, NC_000016.9:g.57577201_57577212dup, NC_000016.9:g.57577198_57577212dup, NC_000016.9:g.57577195_57577212dup, NC_000016.9:g.57577212_57577213insTTTTTTTTTTTTTTTTTTTTTTTTTT
              7.

              rs1491311673 [Homo sapiens]
                Variant type:
                SNV:
                Alleles:
                ->GGCCCGAGGGACCT
                Chromosome:
                no mapping
                Canonical SPDI:
                8.

                rs1491285373 [Homo sapiens]
                  Variant type:
                  SNV:
                  Alleles:
                  ->CGAG
                  Chromosome:
                  no mapping
                  Canonical SPDI:
                  9.

                  rs1491208130 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    GA>- [Show Flanks]
                    Chromosome:
                    16:57573418 (GRCh38)
                    16:57607330 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:57573414:AGAGA:AGA
                    Gene:
                    ADGRG5 (Varview), LOC105371291 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    AGA=0.000071/1 (ALFA)
                    -=0.000026/3 (GnomAD)
                    HGVS:
                    10.

                    rs1491174117 has merged into rs10564046 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      TTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT [Show Flanks]
                      Chromosome:
                      16:57559023 (GRCh38)
                      16:57592935 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:57559012:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000016.10:57559012:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:57559012:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:57559012:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:57559012:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:57559012:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:57559012:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:57559012:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:57559012:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:57559012:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:57559012:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:57559012:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                      Gene:
                      ADGRG5 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      TTTTTTTTTTTT=0./0 (ALFA)
                      TTTTT=0.000004/1 (TOPMED)
                      -=0.483227/2420 (1000Genomes)
                      HGVS:
                      NC_000016.10:g.57559023_57559031del, NC_000016.10:g.57559025_57559031del, NC_000016.10:g.57559026_57559031del, NC_000016.10:g.57559027_57559031del, NC_000016.10:g.57559028_57559031del, NC_000016.10:g.57559029_57559031del, NC_000016.10:g.57559030_57559031del, NC_000016.10:g.57559031del, NC_000016.10:g.57559031dup, NC_000016.10:g.57559030_57559031dup, NC_000016.10:g.57559027_57559031dup, NC_000016.10:g.57559021_57559031dup, NC_000016.9:g.57592935_57592943del, NC_000016.9:g.57592937_57592943del, NC_000016.9:g.57592938_57592943del, NC_000016.9:g.57592939_57592943del, NC_000016.9:g.57592940_57592943del, NC_000016.9:g.57592941_57592943del, NC_000016.9:g.57592942_57592943del, NC_000016.9:g.57592943del, NC_000016.9:g.57592943dup, NC_000016.9:g.57592942_57592943dup, NC_000016.9:g.57592939_57592943dup, NC_000016.9:g.57592933_57592943dup
                      11.

                      rs1491173362 has merged into rs779320962 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT [Show Flanks]
                        Chromosome:
                        16:57527434 (GRCh38)
                        16:57561346 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:57527418:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:57527418:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:57527418:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:57527418:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:57527418:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:57527418:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:57527418:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:57527418:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:57527418:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
                        Gene:
                        CCDC102A (Varview), ADGRG5 (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,intron_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        TTTTTTTTTTTTTTTTT=0./0 (ALFA)
                        HGVS:
                        12.

                        rs1491115910 [Homo sapiens]
                          Variant type:
                          DEL
                          Alleles:
                          AT>- [Show Flanks]
                          Chromosome:
                          16:57559012 (GRCh38)
                          16:57592924 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:57559011:AT:
                          Gene:
                          ADGRG5 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          -=0./0 (ALFA)
                          -=0.000009/1 (GnomAD)
                          HGVS:
                          13.

                          rs1491083928 has merged into rs35729717 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT [Show Flanks]
                            Chromosome:
                            16:57539467 (GRCh38)
                            16:57573379 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:57539454:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:57539454:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:57539454:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:57539454:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:57539454:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:57539454:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:57539454:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:57539454:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:57539454:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:57539454:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT
                            Gene:
                            ADGRG5 (Varview)
                            Functional Consequence:
                            intron_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            TTTTTTTTTTTTTTT=0./0 (ALFA)
                            -=0./0 (KOREAN)
                            T=0.2056/88 (NorthernSweden)
                            HGVS:
                            14.

                            rs1490988309 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A [Show Flanks]
                              Chromosome:
                              16:57536131 (GRCh38)
                              16:57570043 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:57536130:C:A
                              Gene:
                              CCDC102A (Varview), ADGRG5 (Varview)
                              Functional Consequence:
                              intron_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              A=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1490958035 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                TCC>- [Show Flanks]
                                Chromosome:
                                16:57536616 (GRCh38)
                                16:57570528 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:57536608:CTCCTCCTCC:CTCCTCC
                                Gene:
                                CCDC102A (Varview), ADGRG5 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                CTCCTCC=0./0 (ALFA)
                                -=0.000007/1 (GnomAD)
                                -=0.000053/14 (TOPMED)
                                HGVS:
                                16.

                                rs1490851835 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>G [Show Flanks]
                                  Chromosome:
                                  16:57560093 (GRCh38)
                                  16:57594005 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:57560092:T:G
                                  Gene:
                                  ADGRG5 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000008/2 (TOPMED)
                                  G=0.000014/2 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1490820423 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A,G,T [Show Flanks]
                                    Chromosome:
                                    16:57568442 (GRCh38)
                                    16:57602354 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:57568441:C:A,NC_000016.10:57568441:C:G,NC_000016.10:57568441:C:T
                                    Gene:
                                    ADGRG5 (Varview), LOC105371291 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    G=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1490782516 [Homo sapiens]
                                      Variant type:
                                      SNV:
                                      Alleles:
                                      G>C
                                      Chromosome:
                                      no mapping
                                      Canonical SPDI:
                                      19.

                                      rs1490728451 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        16:57540278 (GRCh38)
                                        16:57574190 (GRCh37)
                                        Canonical SPDI:
                                        NC_000016.10:57540277:A:G
                                        Gene:
                                        ADGRG5 (Varview)
                                        Functional Consequence:
                                        intron_variant,genic_upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        G=0.000014/2 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1490725725 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A,T [Show Flanks]
                                          Chromosome:
                                          16:57551086 (GRCh38)
                                          16:57584998 (GRCh37)
                                          Canonical SPDI:
                                          NC_000016.10:57551085:G:A,NC_000016.10:57551085:G:T
                                          Gene:
                                          ADGRG5 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          HGVS:

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